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ECE2 endothelin converting enzyme 2 [ Homo sapiens (human) ]

Gene ID: 9718, updated on 7-Jun-2020

Summary

Official Symbol
ECE2provided by HGNC
Official Full Name
endothelin converting enzyme 2provided by HGNC
Primary source
HGNC:HGNC:13275
See related
Ensembl:ENSG00000145194 MIM:610145
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EEF1AKMT4
Expression
Broad expression in adrenal (RPKM 4.6), brain (RPKM 3.0) and 22 other tissues See more
Orthologs

Genomic context

See ECE2 in Genome Data Viewer
Location:
3q27.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (184276022..184293031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183967445..184010819)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene ALG3 alpha-1,3- mannosyltransferase Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene proteasome 26S subunit, non-ATPase 2 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough EEF1AKMT4-ECE2

Readthrough gene: EEF1AKMT4-ECE2, Included gene: EEF1AKMT4

Homology

Clone Names

  • MGC2408, KIAA0604, MGC17664, MGC78487

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
methylation IEA
Inferred from Electronic Annotation
more info
 
peptide hormone processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
transport vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
transport vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
endothelin-converting enzyme 2
Names
EEF1A lysine methyltransferase 4
EEF1AKMT4-ECE2
EEF1AKMT4-ECE2 readthrough transcript protein
NP_001032401.1
NP_001093590.1
NP_001093591.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037324.3NP_001032401.1  endothelin-converting enzyme 2 isoform B

    See identical proteins and their annotated locations for NP_001032401.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (B) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AY359003, BC142950
    Consensus CDS
    CCDS33899.1
    Related
    ENSP00000352052.4, ENST00000359140.8
    Conserved Domains (2) summary
    cd08662
    Location:85734
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:74727
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001100120.2NP_001093590.1  endothelin-converting enzyme 2 isoform D

    See identical proteins and their annotated locations for NP_001093590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (D) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AF521189, AY359003, BC142950
    Consensus CDS
    CCDS43179.1
    Related
    ENSP00000350066.5, ENST00000357474.9
    Conserved Domains (1) summary
    cd08662
    Location:160809
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
  3. NM_001100121.2NP_001093591.1  endothelin-converting enzyme 2 isoform E

    See identical proteins and their annotated locations for NP_001093591.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (E) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF192531, AF428263, AY359003, BC142950
    Consensus CDS
    CCDS46969.1
    Related
    ENSP00000385846.3, ENST00000404464.7
    Conserved Domains (2) summary
    cd08662
    Location:114763
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:103756
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    184276022..184293031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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